ulrich congenital muscular dystrophy (ucmd)

ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. serum creatine kinase activity is normal or mildly elevated. electronyography reveals action potentials of low amplitude and short duration. muscle biopsy shows myopathic or dystrophic changes. immunolabelling of col6 on endomysium and basal lamina ranges from absent to markedly reduced. immunolabelling can be performed on cultured fibroblasts of muscle is not available. mutations in col6 a1, col6 a2, or col6 a3 are found. we are reporting two iranian families with affected children. our patients have severe hypotonia and contractures from birth. they have also kyphoscoliosis, torticollis, limited movement of shoulder and hips, flexion deformity of elbows and knees, hyperextensibility at distal joints, muscle weakness with decreased muscle mass, rocker bottom feet. their mentality was normal. their emg showed long standing myopathic process. immunolabelling of col6 on cultured fibroblasts from patients showed a reduction in the level of secreted col6, with an intracellular retention. therefore these results strongly suggest a defect in one of the three col6 gene.